Avni Y. Joshi, M.D., M.S.

The purpose of this study is to determine the efficacy of abatacept compared to placebo for treatment of subjects with GLILD in the context of CVID.

There is no standard of care therapy for patients with granulomatous-lymphocytic interstitial lung disease (GLILD) seen in common variable immunodeficiency (CVID). Abatacept has recently looked promising for the treatment of patients with complex CVID.

The purpose of this study is to evaluate the contribution of C. albicans to dysbiotic microbial communities of mucosal tissues in pediatric populations. Prospective sampling across multiples tissue sites in a pediatric cohort will be used to assess which tissues are colonized by C. albicans and associated with microbial dysbiosis seen in atopic dermitis.

We hypothesize presence of C. albicans in the microbial communities in early life is associated with atopy. We will assess the presence of C. albicans in the microbial communities of a population of children at-risk for atopic dermatitis compared to healthy controls who do not have an underlying risk for atopy based off family history. In tandem with the collection of human samples, we will utilize mouse models to validate the influence of C. albicans exposure during early life on the systemic immune populations.

This study is a placebo-controlled, double-blind, randomized trail enrolling children aged 2 to <6 years old with uncontrolled asthma and/or recurrent severe asthmatic wheeze despite stand of care therapy with inhaled corticosteroids.   The study is desgined to evaluate the efficacy and safety of subcutaneous duplimab treatment over a 52-week treatment period.  This study will be conducted in 2 parts.  Part A, a randomized, double-blind, placebo-controlled phase will evaluate efficacy and safety data over 52 weeks.  Participants who satisfy the inclusion/exclusion criteria will be randomized (2:1) to one of the following study intervention groups:  dupilumab 200mg or 300 mg every 4 weeks, or matching placebo.  Eligible participants who complete the randomized treatment period will be offered the opportunity to participate in the Part B 1-year open-label extension study with dupilumab.  All participants whould complete a 12-week post-treatment observational period at the end of their treatment period (Either Part A or Part B).

The purpose of this study is to compare the assessment of the composition of the fecal, nasal,oral and skin microbiota in patients with AD (cases) as compared to age/sex and diet matched control children without atopic dermatitis, and to apply mass-spectrometry-based metabolomic approach to analyzing fecal, nasal, oral and skin samples from cases, in order to characterize their biochemical metabolic profiles by comparison with those of their controls.

The purpose of this study is to build a National Registry of individuals with one of the group of primary immune deficiency diseases. A "Registry" is a list of basic information about people who have a certain disease or condition in common. These immune deficiency diseases are thought to be rare and include: Severe combined immunodeficiency (SCID), leukocyte adhesion deficiency (LAD), X-linked Agammaglobulinemia (XLA), common variable immune deficiency (CVID), DiGeorge syndrome (DGS), Hyper IgM syndrome (HIGM), Wiskott Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). We would like to contribute data on a number of subjects with these relatively rare diseases to this National Registry Data Base. The information will be age, sex, race or ethnic group, immunologic lab tests that were used to diagnose the condition, what complications may have occurred since the condition started, lung disease, blood changes, etc. and the results of various treatments used. The goal is to discover basic outcome data, ethnic, racial characteristics, kind of complications and useful treatments. You will not be contacted by anyone unless you authorize it. If a new study about you (or your child’s) immune defect comes up, your doctor will be notified, who can then share this with you to find out if you are interested in participating or not. Alternatively you may elect to be contacted directly by the Registry to determine your interest in participation.

In this prospective natural history study, the aim is to identify variables contributing to best outcomes for hematopoietic cell tranplantation (HCT) or other treatment where applicable (enzyme replacement or gene therapy), which is life-saving therapy for children with SCID, leaky SCID, Omenn syndrome and reticular dysgenesis. 

Chronic granulomatous disease (CGD) is an inherited immune system abnormality in which bone marrow transplantation has been shown to be curative. However the risks of transplantation are high and not all patients with CGD may need to undergo this high risk procedure. The purpose of this study is to determine the long term medical condition and daily functioning of patients with CGD after a transplant and if possible, compare these results to patients who do not undergo a transplant.

Wiskott - Aldrich syndrome (WAS) is a rare serious medical condition that causes problems both with the immune system and with easy bruising and bleeding. The immune abnormalities cause patients with WAS to be very susceptible to infections. Depending on the specific type of primary immune deficiency diseases, there are effective treatments, including antibiotics, cellular therapy and gene therapy, but studies of large numbers of patients are needed to determine the full range of causes, natural history, or the best methods of treatment for long term success. This multicenter study combines retrospective, prospective and cross-sectional analyses of the transplant experiences for patients with WAS who have already received Hematopoietic cell transplant (HCT) since 1990, or who will undergo HCT during the study period. The retrospective and prospective portions of the study will address the impact of a number of pre and post-transplant factors on post-transplant disease correction and ultimate benefit from HCT.  The cross-sectional portion of the study will assess the benefit of HCT 2 years post-HCT.

The purpose of this study is to determine whether short-term treatment with Fisetin reduces the rate of death and long term complications related to COVID-19.

Our long term aim is identify unique microbiota associated with allergic disease, esp. food allergies and its association with allergic disease state (persistence of food allergies Vs. outgrowth of food allergies) which in turn will facilitate the use of probiotics to decrease the disease burden of allergic diseases.

Common variable immunodeficiency (CVID) is a clinically, genetically and immunologically heterogeneous primary immunodeficiency disease (PID). The goal of this study is to perform whole exome sequencing (WES) to assess for monogenic defects that maybe be disease causing and may help in selection of appropriate therapeutic interventions including the possibility of  hemopoietic stem cell transplant (HSCT).

Investigators are assessing if patients with asthma respond better to the Pneumovax vaccine if they are given Prevnar initially.

Primary immunodeficiencies (PID) are diseases that affect any part of multiple components of the immune system, resulting in abnormal and/or impaired immune responses and increased susceptibility to life threatening infections, autoimmune disease and neoplasias.  The samples collected in this study will provide a valuable and unique sample database that will permit formulation of research protocols aimed at evaluating the biological underpinnings of immune competence and function in PID and the development of novel methods for the assessment of immune parameters in diagnosis of these immunodeficiency diseases.

The purpose of this study is to determine the effectiveness of Fisetin compared to placebo for treatment of subjects with granulomatous-lymphocytic interstitial lung disease (GLILD) in the context of Common Variable Immunodeficiency (CVID), as assessed quantitatively on radiologic imaging.